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Acute Porphyria

Overview

Acute Porphyria is a group of diseases that affect production of heme and result in excessive secretion of porphyrin precursors and porphyrins. Acute Porphyria term includes 4 similar inherited diseases in it. Those terms are acute intermittent Porphyria, plumpoporphyria, hereditary coroporphyria and variegate Porphyria. It is commonly observed that 1 out of 75000 people suffer from the acute attacks of the disease. The condition is termed as acute because it starts with severe pain of abdomen and sometimes also experienced in thighs or back. Alternatives names of the disease are erythropoietic protoporphyria, congenital erythropoietic Porphyria, cute intermittent Porphyria and Hereditary coproporphyria. The disease is experienced by more women as compared to men.


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Causes

Porphyrias are mainly caused due to enzyme deficiencies that take place in the heme production pathway. These deficiencies are result of exposure to environmental infectious agents or toxins or due to inborn errors of metabolism


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Signs & Symptoms

Common symptoms that are experienced in acute porphyrias attack are described below:

  • Severe abdominal pain accompanied by vomiting
  • Constipation
  • Change I urine color (dark or red in color)
  • Anxiety
  • Delirium
  • Pain in the back or thighs

Another noteworthy fact is patients experienced its symptoms only after attaining age of 18 years. If attacks of acute Porphyria occur before puberty or after attaining age of 40 years, then they are categorized as unusual.

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Prevention

Though, there is no sure-fire way of preventing attacks of acute Porphyria, by taking certain precautions its risk can be avoided. Avoid intake of all kinds of alcohol, avoid low calorie diet, etc are certain measures that help in minimizing its risk significantly.


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Treatments
Conservative Treatment Modern Medicine

Depending upon the condition of patients, treatments are suggested. Medicines that are given for treating acute porphyria are assorted below:

  • Propranolol- for controlling heart beat.
  • Sedatives are used for making patients feel sleepy and less anxious.
  • Pain medications are given to get respite from severe pain.
  • Hematin is also given through vein.

Other treatments comprise of:

  • Beta-carotene supplements
  • Phlebotomy (removal of blood)
  • Fluids and glucose are suggested for boosting carbohydrates levels as increased carbohydrate level helps in limiting the Porphyrins production.
  • Chloroquine

Sometimes, health professionals recommend certain precautions, depending upon the condition of patients. Recommendations given by health professionals comprise of:

  • Avoid all kinds of alcohol
  • Avoid injuring the skin
  • Eat carbohydrate rich diet
  • Those drugs that can trigger the attack should be avoided
  • Avoid sun exposure and application of sunlight is must whenever moving outside.

It is advised to take immediate treatment as soon as one experiences its symptoms. Reason being; if treatment is not taken within certain time limit, then serious complications like scarring of the skin, lung failure, coma, etc may take place.

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